Links from Gene
Items: 1 to 20 of 5447
1.
rs1491587099 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 11:64733395
(GRCh38)
11:64500867
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64733394:AA:
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0011/13
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491578960 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 11:64729344
(GRCh38)
11:64496816
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64729342:TGT:T
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000506/6
(
ALFA)
-=0.000215/57
(TOPMED)
-=0.003442/35
(GnomAD)
- HGVS:
3.
rs1491542281 has merged into rs4014428 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 11:64733415
(GRCh38)
11:64500887
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000011.10:64733395:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACACACA=0./0
(
ALFA)
-=0.239/921
(ALSPAC)
- HGVS:
NC_000011.10:g.64733397CA[9], NC_000011.10:g.64733397CA[10], NC_000011.10:g.64733397CA[11], NC_000011.10:g.64733397CA[12], NC_000011.10:g.64733397CA[13], NC_000011.10:g.64733397CA[14], NC_000011.10:g.64733397CA[15], NC_000011.10:g.64733397CA[16], NC_000011.10:g.64733397CA[17], NC_000011.10:g.64733397CA[18], NC_000011.10:g.64733397CA[19], NC_000011.10:g.64733397CA[20], NC_000011.10:g.64733397CA[21], NC_000011.10:g.64733397CA[22], NC_000011.10:g.64733397CA[23], NC_000011.10:g.64733397CA[25], NC_000011.10:g.64733397CA[26], NC_000011.10:g.64733397CA[27], NC_000011.10:g.64733397CA[28], NC_000011.10:g.64733397CA[29], NC_000011.10:g.64733397CA[30], NC_000011.10:g.64733397CA[31], NC_000011.10:g.64733397CA[32], NC_000011.10:g.64733397CA[33], NC_000011.9:g.64500869CA[9], NC_000011.9:g.64500869CA[10], NC_000011.9:g.64500869CA[11], NC_000011.9:g.64500869CA[12], NC_000011.9:g.64500869CA[13], NC_000011.9:g.64500869CA[14], NC_000011.9:g.64500869CA[15], NC_000011.9:g.64500869CA[16], NC_000011.9:g.64500869CA[17], NC_000011.9:g.64500869CA[18], NC_000011.9:g.64500869CA[19], NC_000011.9:g.64500869CA[20], NC_000011.9:g.64500869CA[21], NC_000011.9:g.64500869CA[22], NC_000011.9:g.64500869CA[23], NC_000011.9:g.64500869CA[25], NC_000011.9:g.64500869CA[26], NC_000011.9:g.64500869CA[27], NC_000011.9:g.64500869CA[28], NC_000011.9:g.64500869CA[29], NC_000011.9:g.64500869CA[30], NC_000011.9:g.64500869CA[31], NC_000011.9:g.64500869CA[32], NC_000011.9:g.64500869CA[33], NG_007574.1:g.17014GT[9], NG_007574.1:g.17014GT[10], NG_007574.1:g.17014GT[11], NG_007574.1:g.17014GT[12], NG_007574.1:g.17014GT[13], NG_007574.1:g.17014GT[14], NG_007574.1:g.17014GT[15], NG_007574.1:g.17014GT[16], NG_007574.1:g.17014GT[17], NG_007574.1:g.17014GT[18], NG_007574.1:g.17014GT[19], NG_007574.1:g.17014GT[20], NG_007574.1:g.17014GT[21], NG_007574.1:g.17014GT[22], NG_007574.1:g.17014GT[23], NG_007574.1:g.17014GT[25], NG_007574.1:g.17014GT[26], NG_007574.1:g.17014GT[27], NG_007574.1:g.17014GT[28], NG_007574.1:g.17014GT[29], NG_007574.1:g.17014GT[30], NG_007574.1:g.17014GT[31], NG_007574.1:g.17014GT[32], NG_007574.1:g.17014GT[33]
4.
rs1491390437 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:64736736
(GRCh38)
11:64504209
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64736736:G:GG
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000011/2
(GnomAD_exomes)
- HGVS:
5.
rs1491304600 has merged into rs59836204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 11:64737689
(GRCh38)
11:64505161
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64737678:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.13/501
(ALSPAC)
A=0.3474/1740
(1000Genomes)
- HGVS:
NC_000011.10:g.64737689_64737695del, NC_000011.10:g.64737691_64737695del, NC_000011.10:g.64737692_64737695del, NC_000011.10:g.64737693_64737695del, NC_000011.10:g.64737694_64737695del, NC_000011.10:g.64737695del, NC_000011.10:g.64737695dup, NC_000011.10:g.64737694_64737695dup, NC_000011.10:g.64737688_64737695dup, NC_000011.10:g.64737686_64737695dup, NC_000011.10:g.64737683_64737695dup, NC_000011.10:g.64737682_64737695dup, NC_000011.10:g.64737695_64737696insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.64505161_64505167del, NC_000011.9:g.64505163_64505167del, NC_000011.9:g.64505164_64505167del, NC_000011.9:g.64505165_64505167del, NC_000011.9:g.64505166_64505167del, NC_000011.9:g.64505167del, NC_000011.9:g.64505167dup, NC_000011.9:g.64505166_64505167dup, NC_000011.9:g.64505160_64505167dup, NC_000011.9:g.64505158_64505167dup, NC_000011.9:g.64505155_64505167dup, NC_000011.9:g.64505154_64505167dup, NC_000011.9:g.64505167_64505168insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007574.1:g.12772_12778del, NG_007574.1:g.12774_12778del, NG_007574.1:g.12775_12778del, NG_007574.1:g.12776_12778del, NG_007574.1:g.12777_12778del, NG_007574.1:g.12778del, NG_007574.1:g.12778dup, NG_007574.1:g.12777_12778dup, NG_007574.1:g.12771_12778dup, NG_007574.1:g.12769_12778dup, NG_007574.1:g.12766_12778dup, NG_007574.1:g.12765_12778dup, NG_007574.1:g.12778_12779insTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1490837030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:64744545
(GRCh38)
11:64512017
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64744544:A:C
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490623812 has merged into rs1017234792 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:64728437
(GRCh38)
11:64495909
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64728431:TTTTTTTTTTTT:TTTTT,NC_000011.10:64728431:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:64728431:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:64728431:TTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TT=0.000004/1
(TOPMED)
- HGVS:
NC_000011.10:g.64728437_64728443del, NC_000011.10:g.64728443del, NC_000011.10:g.64728443dup, NC_000011.10:g.64728442_64728443dup, NC_000011.9:g.64495909_64495915del, NC_000011.9:g.64495915del, NC_000011.9:g.64495915dup, NC_000011.9:g.64495914_64495915dup, NG_007574.1:g.22019_22025del, NG_007574.1:g.22025del, NG_007574.1:g.22025dup, NG_007574.1:g.22024_22025dup
11.
rs1490475407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:64736436
(GRCh38)
11:64503908
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64736435:A:C
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490186954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:64728421
(GRCh38)
11:64495893
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64728420:T:C
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490162905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:64736309
(GRCh38)
11:64503781
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64736308:A:C
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489642473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:64736979
(GRCh38)
11:64504451
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64736978:C:T
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000011.10:g.64736979C>T, NC_000011.9:g.64504451C>T, NG_007574.1:g.13478G>A, NM_001098671.2:c.869G>A, NM_001098671.1:c.869G>A, NM_001098670.2:c.869G>A, NM_001098670.1:c.869G>A, NM_001318398.2:c.434G>A, NM_001318398.1:c.434G>A, NM_153819.1:c.869G>A, XM_011544723.4:c.869G>A, XM_011544723.3:c.869G>A, XM_011544723.2:c.869G>A, XM_011544723.1:c.869G>A, XM_011544718.3:c.1184G>A, XM_011544718.2:c.1184G>A, XM_011544718.1:c.1184G>A, XM_011544720.3:c.869G>A, XM_011544720.2:c.869G>A, XM_011544720.1:c.869G>A, XM_017017082.3:c.869G>A, XM_017017082.2:c.1733G>A, XM_017017082.1:c.1733G>A, XM_011544725.3:c.434G>A, XM_011544725.2:c.434G>A, XM_011544725.1:c.434G>A, NM_005825.2:c.1055G>A, XM_011544721.2:c.869G>A, XM_011544721.1:c.869G>A, XM_047426231.1:c.848G>A, NM_005825.1:c.869G>A, XM_047426232.1:c.434G>A, XM_047426233.1:c.434G>A, NP_001092141.1:p.Arg290Gln, NP_001092140.1:p.Arg290Gln, NP_001305327.1:p.Arg145Gln, NP_722541.1:p.Arg290Gln, XP_011543025.1:p.Arg290Gln, XP_011543020.1:p.Arg395Gln, XP_011543022.1:p.Arg290Gln, XP_016872571.2:p.Arg290Gln, XP_011543027.1:p.Arg145Gln, XP_011543023.1:p.Arg290Gln, XP_047282187.1:p.Arg283Gln, XP_047282188.1:p.Arg145Gln, XP_047282189.1:p.Arg145Gln
15.
rs1489569895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:64737529
(GRCh38)
11:64505001
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64737528:G:A
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00007/1
(
ALFA)
A=0.00007/1
(TOMMO)
- HGVS:
16.
rs1489471199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:64742299
(GRCh38)
11:64509771
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64742298:G:A
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489463526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:64730741
(GRCh38)
11:64498213
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64730740:G:A
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
18.
rs1489409880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:64741317
(GRCh38)
11:64508789
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64741316:C:G
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000546/1
(Korea1K)
- HGVS:
19.
rs1489232566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:64739447
(GRCh38)
11:64506919
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64739446:C:T
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
NC_000011.10:g.64739447C>T, NC_000011.9:g.64506919C>T, NG_007574.1:g.11010G>A, NM_001098671.2:c.726G>A, NM_001098671.1:c.726G>A, NM_001098670.2:c.726G>A, NM_001098670.1:c.726G>A, NM_001318398.2:c.291G>A, NM_001318398.1:c.291G>A, NM_153819.1:c.726G>A, XM_011544723.4:c.726G>A, XM_011544723.3:c.726G>A, XM_011544723.2:c.726G>A, XM_011544723.1:c.726G>A, XM_011544718.3:c.1041G>A, XM_011544718.2:c.1041G>A, XM_011544718.1:c.1041G>A, XM_011544720.3:c.726G>A, XM_011544720.2:c.726G>A, XM_011544720.1:c.726G>A, XM_017017082.3:c.726G>A, XM_017017082.2:c.1590G>A, XM_017017082.1:c.1590G>A, XM_011544725.3:c.291G>A, XM_011544725.2:c.291G>A, XM_011544725.1:c.291G>A, NM_005825.2:c.912G>A, XM_011544721.2:c.726G>A, XM_011544721.1:c.726G>A, XM_047426231.1:c.705G>A, NM_005825.1:c.726G>A, XM_047426232.1:c.291G>A, XM_047426233.1:c.291G>A
20.
rs1489165912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:64741656
(GRCh38)
11:64509128
(GRCh37)
- Canonical SPDI:
- NC_000011.10:64741655:G:A
- Gene:
- RASGRP2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS: